Variant Details for XPO5
Basic Information Top
| Gene Symbol: | XPO5 ( FLJ14239,FLJ32057,FLJ45606,KIAA1291 ) |
|---|---|
| Gene Full Name: | exportin 5 |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:57510; OMIM: 607845; Uniprot ID:XPO5_HUMAN; ENSEMBL ID: ENSG00000124571; HGNC ID: 17675 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 2 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000493 | 6 | 6p21.1 | 43528501 | 44152010 | 623509 | loss | external link | Gregory, 2009 |
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | external link | Berkel, 2010 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 43492367 | T | C | c.3319A>G | p.Arg1107Gly | Sanger sequencing | deleterious | 0.7446 | Neale BM, 2012 |
| 6 | 43492367 | T | C | Sanger sequencing | deleterious | 0.7446 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||